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Variant (rsID / SNP)

rs28933375

PRF1

rs28933375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRF1. Location: chromosome 10, position 72,358,722. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:72358722
Cytoband
10q22.1
HGVS
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
Allele change
Missense_N252S

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.